Canonical Allele Identifier: CA369174670

Gene: IMPDH1

Linked Data

• gnomAD v4: 7-128401101-G-C
• MyVariant Identifiers: chr7:g.128041155G>C (hg19) ; chr7:g.128401101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128401101G>C , CM000669.2:g.128401101G>C	GRCh38
NC_000007.13:g.128041155G>C , CM000669.1:g.128041155G>C	GRCh37
NC_000007.12:g.127828391G>C	NCBI36
NG_009194.1:g.13882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348127.11:c.310C>G	ENSP00000265385.8:p.Leu104Val
ENST00000484496.6:n.274C>G
ENST00000338791.11:c.418C>G MANE Select	ENSP00000345096.6:p.Leu140Val
ENST00000648462.1:c.65C>G
ENST00000338791.10:c.418C>G	ENSP00000345096.6:p.Leu140Val
ENST00000348127.10:c.310C>G	ENSP00000265385.8:p.Leu104Val
ENST00000354269.9:c.388C>G	ENSP00000346219.5:p.Leu130Val
ENST00000419067.6:c.319C>G	ENSP00000399400.2:p.Leu107Val
ENST00000469328.5:c.164C>G
ENST00000470772.5:c.163C>G	ENSP00000417296.1:p.Leu55Val
ENST00000473463.1:c.*164C>G	ENSP00000420469.1:n.*164C>G
ENST00000480861.5:c.163C>G	ENSP00000420185.1:p.Leu55Val
ENST00000484496.5:c.274C>G	ENSP00000418742.1:p.Leu92Val
ENST00000489263.1:c.211C>G	ENSP00000418592.1:p.Leu71Val
ENST00000491376.5:n.587C>G
ENST00000496200.5:c.163C>G	ENSP00000420803.1:p.Leu55Val
ENST00000496487.5:n.238C>G
ENST00000497868.5:c.211C>G	ENSP00000419609.1:p.Leu71Val
ENST00000626419.2:c.163C>G	ENSP00000486056.1:p.Leu55Val
NM_000883.3:c.418C>G	NP_000874.2:p.Leu140Val
NM_001102605.1:c.388C>G	NP_001096075.1:p.Leu130Val
NM_001142573.1:c.163C>G	NP_001136045.1:p.Leu55Val
NM_001142574.1:c.163C>G	NP_001136046.1:p.Leu55Val
NM_001142575.1:c.163C>G	NP_001136047.1:p.Leu55Val
NM_001142576.1:c.319C>G	NP_001136048.1:p.Leu107Val
NM_001304521.1:c.211C>G	NP_001291450.1:p.Leu71Val
NM_183243.2:c.310C>G	NP_899066.1:p.Leu104Val
XM_005250314.1:c.187C>G	XP_005250371.1:p.Leu63Val
XM_006715967.1:c.418C>G	XP_006716030.1:p.Leu140Val
XM_006715968.1:c.388C>G	XP_006716031.1:p.Leu130Val
XM_006715969.1:c.310C>G	XP_006716032.1:p.Leu104Val
XM_006715970.2:c.211C>G	XP_006716033.1:p.Leu71Val
XM_006715971.1:c.187C>G	XP_006716034.1:p.Leu63Val
XM_017012172.1:c.187C>G	XP_016867661.1:p.Leu63Val
XM_017012173.1:c.388C>G	XP_016867662.1:p.Leu130Val
XM_024446755.1:c.388C>G	XP_024302523.1:p.Leu130Val
XM_024446756.1:c.310C>G	XP_024302524.1:p.Leu104Val
XM_024446757.1:c.211C>G	XP_024302525.1:p.Leu71Val
XM_024446758.1:c.187C>G	XP_024302526.1:p.Leu63Val
NM_000883.4:c.418C>G MANE Select	NP_000874.2:p.Leu140Val
NM_001102605.2:c.388C>G	NP_001096075.1:p.Leu130Val
NM_001142573.2:c.163C>G	NP_001136045.1:p.Leu55Val
NM_001142574.2:c.163C>G	NP_001136046.1:p.Leu55Val
NM_001142575.2:c.163C>G	NP_001136047.1:p.Leu55Val
NM_001142576.2:c.319C>G	NP_001136048.1:p.Leu107Val
NM_001304521.2:c.211C>G	NP_001291450.1:p.Leu71Val
NM_183243.3:c.310C>G	NP_899066.1:p.Leu104Val